IthaID: 1252

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 131 CAG>AAG	HGVS Name:	HBB:c.394C>A
Hb Name:	Hb Shelby	Protein Info:	β 131(H9) Gln>Lys

Context nucleotide sequence:
CACCCCACCAGTGCAGGCTGCCTAT [A/C/G] AGAAAGTGGTGGCTGGTGTGGCTAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYKKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar
LOVD

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-chain variant
Allele Phenotype:	N/A
Stability:	Unstable
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	71968
Size:	1 bp
Located at:	β
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	African
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.

ID	Hb Variant	Gene	Instrument	Method	Area (%)	Ret Time (min)	Comments
473	Hb Shelby	β	D-10	Dual Kit Program	5.8	3.1	heterozygote	[PDF]
470	Hb Shelby	β	D-10	Dual Kit Program	11.7	3.06	Compound heterozygous Hb Shelby / Beta zero Thalassemia.	[PDF]
474	Hb Shelby	β	VARIANT	β-thal Short Program	3.9	3.62	heterozygote	[PDF]
471	Hb Shelby	β	VARIANT	β-thal Short Program	10.6	3.61	Compound heterozygous Hb Shelby / Beta zero Thalassemia.	[PDF]
476	Hb Shelby	β	VARIANT II	Dual Kit Program	3.9	2.979	heterozygote	[PDF]
475	Hb Shelby	β	VARIANT II	β-thal Short Program	4.4	3.66	heterozygote	[PDF]
472	Hb Shelby	β	VARIANT II	Dual Kit Program	12.2	2.968	Compound heterozygous Hb Shelby / Beta zero Thalassemia.	[PDF]
44	Hb Shelby	β	VARIANT II	Dual Kit Program	73.6	4.74	Compound heterozygote between Hb Shelby and beta (0) Thal.	[PDF]

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

Lutcher CL, Wilson JB, Gravely ME, Stevens PD, Chen CJ, Lindeman JG, Wong SC, Miller A, Gottleib M, Huisman TH, Hb Leslie, an unstable hemoglobin due to deletion of glutaminyl residue beta 131 (H9) occurring in association with beta0-thalassemia, HbC, and HbS., Blood, 47(1), 99-112, 1976 PubMed

Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.

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